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Results 11-20 of 25 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2019
Combining BH3-mimetics to target both BCL-2 and MCL1 has potent activity in pre-clinical models of acute myeloid leukemia
Moujalled, D.M.
;
Pomilio, G.
;
Ghiurau, C.
;
Ivey, A.
;
Salmon, J.
;
Rijal, S.
;
Macraild, S.
;
Zhang, L.
;
Teh, T.C.
;
Tiong, I.S.
;
Lan, P.
;
Chanrion, M.
;
Claperon, A.
;
Rocchetti, F.
;
Zichi, A.
;
Kraus-Berthier, L.
;
Wang, Y.
;
Halilovic, E.
;
Morris, E.
;
Colland, F.
;
et al.
2012
Glucokinase links Kruppel-like factor 6 to the regulation of hepatic insulin sensitivity in nonalcoholic fatty liver disease
Bechmann, L.
;
Gastaldelli, A.
;
Vetter, D.
;
Patman, G.
;
Pascoe, L.
;
Hannivoort, R.
;
Lee, U.
;
Fiel, I.
;
Munoz, U.
;
Ciociaro, D.
;
Lee, Y.
;
Buzzigoli, E.
;
Miele, L.
;
Hui, K.
;
Bugianesi, E.
;
Burt, A.
;
Day, C.
;
Mari, A.
;
Agius, L.
;
Walker, M.
;
et al.
2013
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Aoki, Y.
;
Niihori, T.
;
Banjo, T.
;
Okamoto, N.
;
Mizuno, S.
;
Kurosawa, K.
;
Ogata, T.
;
Takada, F.
;
Yano, M.
;
Ando, T.
;
Hoshika, T.
;
Barnett, C.
;
Ohashi, H.
;
Kawame, H.
;
Hasegawa, T.
;
Okutani, T.
;
Nagashima, T.
;
Hasegawa, S.
;
Funayama, R.
;
Nagashima, T.
;
et al.
2015
Progesterone receptor modulates ERα action in breast cancer
Mohammed, H.
;
Russell, I.
;
Stark, R.
;
Rueda, O.
;
Hickey, T.
;
Tarulli, G.
;
Serandour, A.
;
Birrell, S.
;
Bruna, A.
;
Saadi, A.
;
Menon, S.
;
Hadfield, J.
;
Pugh, M.
;
Raj, G.
;
Brown, G.
;
D'Santos, C.
;
Robinson, J.
;
Silva, G.
;
Launchbury, R.
;
Perou, C.
;
et al.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield, M.
;
Baris, H.
;
Wu, C.
;
Rudolph, G.
;
van Maldergem, L.
;
He, W.
;
Chan, W.
;
Andrews, C.
;
Demer, J.
;
Robertson, R.
;
Mackey, D.
;
Ruddle, J.
;
Bird, T.
;
Gottlob, I.
;
Pieh, C.
;
Traboulsi, E.
;
Pomeroy, S.
;
Hunter, D.
;
Soul, J.
;
Newlin, A.
;
et al.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, K.
;
Turner, G.
;
Kerr, B.
;
Mathews, K.
;
Shaw, M.
;
Gedeon, A.
;
Schelley, S.
;
Hoyme, H.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Clayton-Smith, J.
;
Stewart, H.
;
van Ravenswaay, C.
;
de Vries, B.
;
Cox, B.
;
Grompe, M.
;
Ross, S.
;
Thomas, P.
;
Mulley, J.
;
et al.
Discover
Author
3
Hughes, J.
2
de Vries, B.
2
Dibbens, L.
2
Gecz, J.
2
Mackey, D.
2
Ross, S.
2
Shaw, M.
2
Sutton, E.
2
Thomas, P.
2
White, S.
.
next >
Subject
25
Animals
24
Humans
20
Male
9
Mutation
8
Child
8
Pedigree
7
Disease Models, Animal
6
Brain
6
Child, Preschool
6
Mice, Inbred C57BL
.
next >
Date issued
22
2010 - 2020
3
2002 - 2009